Variant report

Variant	rs12708031
Chromosome Location	chr8:50219758-50219759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10808760	0.90[AMR][1000 genomes]
rs10957382	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10957385	0.83[AFR][1000 genomes]
rs11994922	0.86[AFR][1000 genomes]
rs12548812	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13256466	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13262902	0.86[AMR][1000 genomes]
rs13263230	0.83[AFR][1000 genomes]
rs1356754	0.90[AMR][1000 genomes]
rs1356755	0.96[AMR][1000 genomes]
rs1383274	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1383276	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1383279	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1480388	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1480389	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1480390	0.81[ASN][1000 genomes]
rs1519824	0.90[AMR][1000 genomes]
rs1554378	0.90[AMR][1000 genomes]
rs1585895	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1842403	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2891746	0.87[EUR][1000 genomes]
rs4427188	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6985247	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6999524	0.81[AFR][1000 genomes]
rs7001422	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73678572	0.81[ASN][1000 genomes]
rs7832761	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9643588	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9643589	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9792367	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1034908	chr8:50023423-50416049	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv539601	chr8:50023423-50416049	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1024410	chr8:50037085-50511501	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv428517	chr8:50094920-50232993	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv890855	chr8:50109365-50252962	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv890856	chr8:50133485-50272497	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890857	chr8:50133485-50469764	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv917031	chr8:50207246-50709286	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv890858	chr8:50219675-50532935	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50219000-50220400	Flanking Active TSS	Dnd41	blood
2	chr8:50219600-50219800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:50219600-50220400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:50219600-50220600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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